Variant report

Variant	rs449313
Chromosome Location	chr16:11998355-11998356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:11998351-11999430	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:11998002..12000497-chr16:12001892..12004784,3	MCF-7	breast:
2	chr16:11986091..11989126-chr16:11998045..12000839,3	K562	blood:
3	chr16:11990000..11991913-chr16:11997850..12000555,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261216	TF binding region
COX6CP1	TF binding region
ENSG00000103342	Chromatin interaction
ENSG00000261216	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11863305	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17235441	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35080834	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs380494	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs382158	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs407719	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs412565	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs423178	0.83[EUR][1000 genomes]
rs424905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs434762	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs435108	0.97[ASN][1000 genomes]
rs456182	0.82[EUR][1000 genomes]
rs456485	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs458548	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs463767	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs464017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs464298	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs468517	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs468800	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs643980	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7184191	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043909	chr16:11839910-12007435	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1735	chr16:11986963-12031597	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:11962600-12004000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:11966200-12006200	Weak transcription	Fetal Heart	heart
3	chr16:11976600-12004800	Weak transcription	Esophagus	oesophagus
4	chr16:11977000-12007200	Weak transcription	Colonic Mucosa	Colon
5	chr16:11977200-12004600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:11979800-12003200	Weak transcription	Small Intestine	intestine
7	chr16:11981200-12004000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:11981800-12001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:11982000-12007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:11984600-12006800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:11985000-12007000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr16:11986200-11999600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:11986200-12003800	Weak transcription	Brain Substantia Nigra	brain
14	chr16:11987600-12004000	Weak transcription	Brain Angular Gyrus	brain
15	chr16:11987800-12004200	Weak transcription	Fetal Brain Female	brain
16	chr16:11987800-12007600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:11987800-12008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:11988000-12004200	Weak transcription	Fetal Kidney	kidney
19	chr16:11988200-12000000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:11989200-12004000	Weak transcription	Fetal Lung	lung
21	chr16:11989600-12000200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr16:11989800-11999200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:11989800-12000000	Weak transcription	Ovary	ovary
24	chr16:11989800-12007200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr16:11989800-12007400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr16:11990000-12001000	Weak transcription	Fetal Muscle Leg	muscle
27	chr16:11990000-12007400	Weak transcription	Lung	lung
28	chr16:11990600-12004200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:11990600-12006600	Weak transcription	Brain Germinal Matrix	brain
30	chr16:11990800-11998600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr16:11990800-12001200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:11990800-12007000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr16:11991000-11998400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:11991000-11999400	Weak transcription	Thymus	Thymus
35	chr16:11991000-12002800	Weak transcription	Adipose Nuclei	Adipose
36	chr16:11991000-12003000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr16:11991000-12004200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:11991000-12004200	Weak transcription	Brain Hippocampus Middle	brain
39	chr16:11991000-12006800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr16:11991000-12007400	Weak transcription	Placenta	Placenta
41	chr16:11991400-11998600	Weak transcription	Aorta	Aorta
42	chr16:11991400-12000600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:11991400-12007000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:11991600-11998800	Weak transcription	NHLF	lung
45	chr16:11991600-12003200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:11991600-12004200	Weak transcription	NH-A	brain
47	chr16:11991600-12004200	Weak transcription	NHDF-Ad	bronchial
48	chr16:11991600-12006200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr16:11992000-12000600	Weak transcription	A549	lung
50	chr16:11992000-12007000	Weak transcription	Primary B cells from cord blood	blood

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